Skip to main content
. Author manuscript; available in PMC: 2012 Jul 25.
Published in final edited form as: Nat Genet. 2008 Oct 26;40(11):1335–1340. doi: 10.1038/ng.245

Table 1.

Family Ethnicity Gene Mutation (nt) LRTOMT2a Mutation (aa) LRTOMT2 Mutation (nt) LRTOMT1a Mutation (aa) LRTOMT1 Allele frequencyb
TR57 Turkish LRTOMT c.358+4G>A p.A29SfsX54 c.761+4G>A p.G163VfsX4 0/176
FT1A-G Tunisian LRTOMT c.242G>A p.R81Q c.645G>A p.A215A 0/190
FT2 Tunisian LRTOMT c.313T>C p.W105R c.716T>C 3’ UTR 0/180
PKDF702 Pakistani LRTOMT c.328G>A p.E110K c.731G>A 3’ UTR 0/364
PKDF537 Pakistani *
a

Nucleotide changes are numbered according to the first coding ATG (Accession numbers EU627069, EU627070).

b

Ethnically matched hearing subjects.

*

In family PKDF537, no pathogenic mutations were found either in the coding region of FGF3, LRTOMT or in 25 evolutionary conserved regions in the introns of LRTOMT, suggesting that the mutation might be in a nonconserved region of an intron, in a distant regulatory element, or in another gene in the DFNB63 interval. Alternatively, the hearing loss segregating in this large family may have been spuriously linked to chromosome 11q13.3 despite a LOD score of 6.98.